Thalassemia Patients and Friends
Discussion Forums => Thalassemia Major => Topic started by: fairytale on June 03, 2007, 10:23:02 PM
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Hi friends,
My fiance was tested to see if he has thal traits and he's test were not clear so the doctors told him he had to do a DNA test with his parents cause they had suspicion that he might have stigma A. I have thal major and my doctor told me i also have stigma A.
Can anyone please help me? What if the tests come out positive and he does have stigma A and I have thal major and stigma A? Do I have higher risks of having a child with thal major?
This has troubled me alot and the DNA results are taking forever. What should I be expecting if the worst case senario happens?
Please help!!!!!!!!
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What is stigma A?
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Hi Fairytale
In reading your posting i thought that this could have been the case.
I think there is a misundestanding of your comprehension what the doctor meant , having said that
"thals is a stigma" he /she meant that in some cultures this disorder is a mark of social disgrace.
it is stigmatized like some other cases e:g mental illness
Stigma A is not a diagnosis but maybe is a slang word used by the doctor.
I hope I make sense if not next time you visit your doctor ask h/her to explain.
Kathy
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could stigma A be alpha thal minor?
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Hi fairytale!
:welcome to the site.
Let's get this thing straight first. If your doctor meant Thal. minor as Stigma A; but you say that you are Thal. Major and also have "Stigma A" which is senseless, so, the testing of Thal. minor for him is not what he intended.
Did he mean Sickle Anemia instead of Stigma A?
:huh I'm confused.
Take care, Peace!
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After a bit more googling, and stumbling across something Marientina wrote, I found that being a carrier of thalassemia is referred to as having the stigma. This is common in the Mediterranean area, where there has historically been, a stigma associate with any genetic illness.
Fairytale, you do need to know the results of the DNA tests. If your fiance is a carrier of thal, there is a 50% chance of having a major. In this case, in vitro fertilization might be the best choice for getting pregnant.
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But Andy,
She said:
I have thal major and my doctor told me i also have stigma A.
If Stigma A is Thal. Minor then the above statement doesn't make sense!
Fairytale,
Are you sure you are Thal. Major? How long have you been transfusing? Since early life or several years later?
I have suspicion that you have been misdiagnosed as Major if you have started TransX later in life. If that is true, you are most likely an Intermedia or Thal. Minor (with symptoms) that now you require TransX.
Take care, Peace!
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Sajid,
Since in previous posts, Fairytale has mentioned her age (33) and that she has used desferal for 29 years. If she started desferal at age 4, she must've already been transfusing for a year or two at the least by then. There is no basis for believing she is intermedia.
Anyone carrying thal genes (minor through major) and their family members are said to have the stigma in the Mediterranean cultures. It would not be unusual for a doctor in Cyprus to refer to any carrier as having a stigma.
From http://books.google.com/books?id=PAcBUMFBkkUC&pg=PA56&lpg=PA56&dq=stigma+thalassemia&source=web&ots=IEde4wFqQd&sig=7U-D6bWie9bqG3l31j3BW6IVsYQ
in Cypress...the word stigma is still generally used in spoken language to denote the heterozygous state of thalassemia.
The words thalassemia and stigma mean the same thing in spoken language in Cyprus. Testing for stigma would mean the same thing as testing for thal.
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It's really an awkward word to use. No disease is a Stigma!
I guess some word in their language is not properly translated. It is just like that "victim of disease" word in Urdu that happened some time ago. See this link:
http://www.thalassemiapatientsandfriends.com/index.php?topic=208.msg1192#msg1192
Take care, Peace!
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Hi friends,
thanks for all your replies, I see i have confused some of you. Like Andy said here in Cyprus we use the word stigma for someone who is a carrier. It really doesn' t mean to degrade anyone. It's jusst the word used. Stigma A must be some form of aneamia. Like my doctor explained to me someone can be a carrier their whole life and not know about it. Its just that apart from having thal major he told me i also have this stigma a. There must be another word used, maybe aneamia A i don't know. When I go for my next transfussion I will ask him how else we call this and i will let you guys know.
I hope i didn't upset anyone, really here where i live this word doesnt degrade anyone.
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Hi Fairytale,
The doctor might mean alpha thalassemia, as Sharmin suggested. If that is the way it is described, beta thal would be stigma B and alpha thal would be stigma A. The reason the doctor is concerned is because sometimes when beta and alpha are combined, it can lead to thal intermedia, but never major. If it turns out that your fiance is a carrier of alpha, then it may be best to try in vitro fertilization to become pregnant so that the embryos can be screened for thal. Sometimes with thal majors, IV fertilization is the method that will be best for getting pregnant anyway, so it might be something for you to think about.
Please don't feel that you offended anyone. You have brought up an important topic. Thals around the world have often had to hide their condition because of the social stigma and one of the purposes of our group is to help change that. Thals should be accepted by society and never stigmatized and by our efforts we change this a little bit at a time.
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Thank-you Fairytale.
Because of your postings I learnt something new yesterday.It is good to know the difference,this is the magic of civilizations it make life interesting.
This site is a good learning tool and thank-you everyone for your postings.
Have a good day.
Kathy
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:exactly :agree
No offence done Fariytale!
Just like Kathy said, it's good to know about different cultures. You have made us learn that the meaning of Stigma is different in your language and now we know more better. Thanks!
Take care, Peace!
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Andy i would like to ask you cause you seem to know, if my doctor did indeed mean alpha thal is it possible to have thal major and alpha thal?
Sorry to bother you friend but the DNA test is taking for ever and i'm very anxious
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It is possible to carry both traits, but alpha trait can actually lessen the severity of thal major if it is present.
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I am a beta thal carrier (minor), my husband is a beta thal carrier and an alpha thal carrier. Our son only inherited the beta thal from each of us-he did not inherit my husband's alpha thal. Possibly, if he had inherited the alpha thal as well his thal may have been less severe.
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Thanks Andy for your reply,
I saw my doctor today and this is exactly what he explained to me also. I do have both traits and when my fiance was tested his results weren't clear, the doctors had suspision that he might carry the alpha trait and thats why we needed the dna test done. What can go wrong if he does have the alpha trait after all?
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If you both carry alpha thal there is a 25% chance that when you conceive you child would inherit alpha thal from both of you. Since alpha chains are required very early in development - often pregnancies in which the child inherits alpha thal major the mother would miscarry. I don't know if this is always the case. But there is a 75% chance that your child will be healthy - inheriting only alpha thal or beta thal from the parents. Having both alpha thal minor and beta thal minor is probably better than just inheriting one trait b/c there would be fewer alpha chains floating around.
This is my limited knowledge on the subject, I am sure Andy can clarify and expand. Good luck.
Sharmin
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There is an important distinction that should be understood concerning alpha trait. There are 4 alpha genes, whereas there are only two beta genes. When one has one alpha thal gene, it is called silent carrier state. Two alpha thal genes produce alpha thal trait. Three alpha thal genes result in a thalassemia much like beta intermedia, including the potential for transfusion dependency. Four alpha thal genes result in the production of no useful hemoglobin and the baby usually miscarries or dies at birth. The only treatment is prenatal transfusion of the fetus. This is very rare.
fairytale, the possibilities depend on how many alpha genes you and your fiance carry. If you are just a carrier (one gene) and your fiance is also a carrier, your child could possibly inherit two alpha and one beta genes. The odds of this are small but the possibility exists. The concern is that when two or more alpha genes are present along with one beta thal gene, it can lead to thal intermedia, although it may likely be that the child would be more like a beta minor. Sometimes, the patient will have few if any symptoms and sometimes it behaves more like regular thal intermedia. At this point it is not something that can be predicted. If either of you carries more than one alpha gene, the odds of passing on alpha increases.
The government of Cyprus is being very diligent in its efforts to keep thal from propagating. This became necessary because so much of the population carries thal genes. As a result, testing is now required before marriage, so that couples can make intelligent and informed choices about how to proceed in planning pregnancies. Although not mandatory, abortions of thal major fetuses are strongly recommended. These policies have greatly decreased the amount of majors being born in Cyprus. Whether one approves of abortion or not, this is how it is there. The economic reality of financing treatment for large amounts of thals has forced Cyprus into a tough pragmatic policy. When there are hundreds and even thousands of patient to treat, education, testing and prevention become key elements in reducing the amount of thal births and thusly, the total cost of care. Advances in thal treatment have also led to an explosion in the cost of thal care. This will undoubtedly force countries to become very proactive concerning the prevention of thal. Education, awareness and testing all have important roles. Never underestimate the impact that we, the online community can have in raising awareness about thal.
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Andy i would like to thank you from the bottom of my heart. My doctor couldn't explain it better than you. Abortion will never be an option for me even if i have to deal with thal major. I've managed to live my life normally just like any other human being. Me being thal major has never really stopped me from doing anything i really wanted to, of course pumping makes life a bit difficult but i don't know life without it. I just wanted to know and to be prepared for whatever i might have to deal with in the future. It kills me to think that our government here encourages couples to have abortions to minimize thalasseamia. Shame on them. I wouldn't have wanted my mom to abort me. SHAME ON THEM!!!!!!!!
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Hi Fairytale.
Good on you.I second your opinion.
what a shame that people has to abort their children just because it doesn't fit in with the state budget , in other part of the world ,A lot of people survive very well with thalasseamia and they don't even know that they have it.
I do agree that they do have an early death but then they have contributed and left a legacy behind.
I myself think that science interfer too much with humanity.these days every one wants to control everything and every one wants perfection when it doesn't exist.we all want a designer" person"
We are god creation and we need to be just what we suppose to be nothing more nothing less.
Kathy